Mar 19, 2014 11:15 AM by associated press
Two nonprofits named for children with the most common genetic cause of combined deafness and blindness have given $70,000 to continue research into Usher syndrome at the LSU Health Sciences Center New Orleans.
The money raised by The Eye on Jacob Foundation of La Canada, Calif., and Helping Hunter of Youngsville, La., goes to the laboratory of research professor Jennifer Lentz.
Her lab created mice with the gene that causes Usher syndrome in Louisiana's Cajuns and Canada's Acadians. Scientists spliced the human gene into the DNA of mice. Descendants of those mice have symptoms very much like Usher patients - they're born deaf and with balance problems, and gradually lose their sight.
"My laboratory uses this Usher mouse model to understand the underlying mechanisms that lead to the dual sensory loss associated with Usher syndrome and to develop therapies aimed at preventing or curing deafness and blindness," Lentz said. Last year, Lentz and Chicago Medical School researcher Michelle Hastings reported on an injection that let affected mice hear for months - though the effects did wear off. The two got a $1.3 million grant last year for four more years of mouse studies.
According to the National Institutes of Health, one baby in about 25,000 in developed countries is born with Usher syndrome. Worldwide, the figure is one in 6,000 to 7,500.
One mutation accounts for nearly all type 1 cases - the most severe form - in people of Acadian heritage.
The Eye on Jacob Foundation is named for Jacob Desormeaux, son of Louisiana-born jockey Kent Desormeaux. Helping Hunter is named for Hunter Faucheaux, son of Blair and Elise Faucheaux of Youngsville.